The immunobiology and clinical features of type 1 autoimmune polyglandular syndrome (APS-1)

Guo, Can-Jie; Leung, Patrick S.C.; Zhang, Weici; Ma, Xiong; Gershwin, M. Eric

doi:10.1016/j.autrev.2017.11.012

Cited by 70 publications

(86 citation statements)

References 71 publications

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“…Her clinical course encourages early metabolic assessment when addressing adolescent behavior disorders and short-interval monitoring for APS. [7][8][9][10][11][12][13][14][15] Our patient's lack of expressed hypoglycemia, electrolyte imbalance other than calcium and phosphorous, or aberrant skin pigmentation supported acute 1-to 2-month development of her adrenal insufficiency. Her hypercalcemia was unusual to associate with her onset of adrenal insufficiency and raised concern for medical compliance.…”

Section: Discussionmentioning

confidence: 99%

“…Polyglandular autoimmune syndromes tend to show a female predominance not seen with APS-1 as classically due to a homozygous (autosomal recessive) inactivating mutation in the autoimmune regulator gene, AIRE. [7][8][9][12][13][14][15] APS is a set of rare genetic disorders historically evolving from Thomas Addison's 1849 description of unexplained deaths of patients with suprarenal (adrenal) disease and other features now recognized as autoimmune concerns: pernicious anemia and vitiligo. 16 Adrenal insufficiency, primary or secondary, tends to develop in an insidious manner if not first detected as an adrenal crisis (hypoglycemia, hyponatremia with hyperkalemia, cardiovascular collapse) precipitated by stress (eg, trauma, surgery, or serious infection).…”

Section: Discussionmentioning

confidence: 99%

“…Blood sent for high-resolution genetic assessment returned homozygous for known APS-1 deletion of nucleotides 1094-1106 on chromosome 21 at 21q22.3. [7][8][9] Pediatric endocrine service followed her until 18 years of age. During that time, her estradiol 4.3 ng/dL, luteinizing hormone 33.8 mIU/mL, and follicle-stimulating hormone 10.6 mIU/mL levels combined with her persistent irregular cycles were suggestive of emerging hypergonadotropic hypogonadism.…”

Section: Case Reportmentioning

confidence: 99%

“…Autoimmune Polyglandular Syndrome Type 1 (APS-1) Clinical Features and Associated Autoantibodies[7][8][9][10][11] .…”

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confidence: 99%

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Adolescent Anxiety or Polyendocrine Autoimmunity?

Smith

Garla

Moll

et al. 2020

Global Pediatric Health

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The Centers for Disease Control and Prevention mental health 2005 to 2011 report identifies that 13% to 20% of US children experience a mental disorder each year with significant individual and public health, social, and economic consequences. 1 While attention deficit hyperactive disorder is the most common childhood neurobehavioral disorder (estimated prevalence 8.6%), childhood anxiety panic attack disorder (estimated prevalence 4.7%) commonly occurs or is misdiagnosed in presence of other medical conditions that include hyperthyroidism, hyperparathyroidism or abnormal serum calcium levels, pheochromocytoma, vestibular dysfunctions, seizure disorders, and cardiopulmonary conditions. 2-4 Our teen female patient presented with panic attacks unresponsive to psychiatry consultation with short course of selective serotonin reuptake inhibitor therapy. Her family physician obtained basic metabolic blood tests and requested immediate attention of our medical center (University of Mississippi Medical Center [UMMC]) pediatric endocrine service to assess and correct her severe hypocalcemia. This brief report calls attention to symptoms and associated medical conditions to consider early in differential diagnosis and management of adolescent behavior disorders. Our patient's clinical course is unusual in its presentation of panic attack symptoms with hypocalcemia, its rapid 6-month progression of multiple endocrinopathies, and transient hypercalcemia with onset of adrenal insufficiency. We summarize medical literature pertinent to our patient's rare polyendocrinopathy. Methods Our patient received appropriate medical care for her presenting symptoms, diagnoses, and treatment. Her medical chart was reviewed, and all of her health information was de-identified by her attending physicians prior to submission for publication.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Case Reportmentioning

confidence: 99%

“…Autoimmune Polyglandular Syndrome Type 1 (APS-1) Clinical Features and Associated Autoantibodies[7][8][9][10][11] .…”

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confidence: 99%

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Adolescent Anxiety or Polyendocrine Autoimmunity?

Smith

Garla

Moll

et al. 2020

Global Pediatric Health

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“…APECED also called autoimmune polyglandular syndrome type 1 (APS-1) (OMIM240300) is a monogenic disease, caused by biallelic mutations in the autoimmunity regulator (AIRE), is classified as a group IV immunodeficiency of the IUIS,the patients presentwith hypoparathyroidism, hypothyroidism, adrenal insufficiency, diabetes, gonadal insufficiency in addition to chronicmucocutaneous candidiasis [53] [54]. The production of antibodies against IL-17 and IL-22 is a characteristic of these patients in addition to the specific organ antibodies [55] [56]. There is also aassociation between the presence of antibodies against IL-17A and the predisposition to CMC in patients with APECED [57].…”

Section: Chronic Mucocutaneous Candidiasis (Cmc) (Isolated or With Apmentioning

confidence: 99%

Phenocopies: Mimics of Inborn Errors of Immunity

Alonso-Bello¹,

Espinosa‐Padilla²,

Temix-Delfin³

et al. 2020

OALib

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A phenocopy is defined as a clinical non-inherited phenotype in an individual, with environmental induction, which is identical to the genetically determined phenotype of another. Until February 2017, the IUIS (International Union of Immunological Societies) reported in its classification 354 innate immunity errors and a final group (classification table IX) with conditions that are not part of the innate alterations and are called phenocopies. These are classified into two types, the associated with somatic mutations and those associated with auto-antibodies. The phenotypes that occur by any of the mechanisms mentioned are complex and varied. It is necessary to know the clinical manifestations of the pathologies classified in this group to enrich the possible differential diagnoses in individuals with suspected immunodeficiency.

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An uncommon presentation of autoimmune polyglandular syndrome type 1 (APS‐1)—A case report

Alrufaidi,

Alnashery,

Alghanimi

et al. 2024

Clinical Case Reports

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Key Clinical MessageAutoimmune polyglandular syndrome type 1 (APS‐1) is a rare disorder defined by the presence of at least two of the following conditions: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism, and Addison's syndrome. Despite the lack of CMC and autoimmune history, APS‐1 can be diagnosed using genetic testing.We present the case of a 28‐year‐old female patient with a history of hypocalcemia due to hypoparathyroidism since the age of 2 years. She presented to the endocrine clinic with hypogonadism, primary amenorrhea, and primary ovarian insufficiency. Addison's disease was eventually diagnosed, despite a negative Synacthen test. The adrenal crisis required intravenous hydrocortisone therapy. No CMC was documented, and there was no family history of such conditions. The diagnosis of APS‐1 was confirmed by genetic testing, revealing homozygous pathogenic variants of the autoimmune regulator gene. Management included oral calcium and calcitriol and oral hydrocortisone and fludrocortisone for Addison's disease. Hormonal induction of secondary sexual characteristics was initiated. The patient received combined oral estrogen and progesterone pills. This case highlights the critical significance of early recognition, thorough evaluation, and tailored treatment for patients with APS‐1 to enhance their quality of life and mitigate potentially life‐threatening complications. This underscores the importance of screening for associated minor autoimmune diseases as part of a holistic approach to care.

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The immunobiology and clinical features of type 1 autoimmune polyglandular syndrome (APS-1)

Cited by 70 publications

References 71 publications

Adolescent Anxiety or Polyendocrine Autoimmunity?

Adolescent Anxiety or Polyendocrine Autoimmunity?

Phenocopies: Mimics of Inborn Errors of Immunity

An uncommon presentation of autoimmune polyglandular syndrome type 1 (APS‐1)—A case report

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